Incidental Mutation 'R5698:Irs1'
| ID |
450760 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irs1
|
| Ensembl Gene |
ENSMUSG00000055980 |
| Gene Name |
insulin receptor substrate 1 |
| Synonyms |
G972R, IRS-1 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.647)
|
| Stock # |
R5698 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
82233101-82291416 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82288734 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 587
(H587R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063795
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069799]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069799
AA Change: H587R
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000063795
Gene: ENSMUSG00000055980
AA Change: H587R
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
13 |
117 |
8.13e-14 |
SMART |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
IRS
|
155 |
257 |
1.19e-35 |
SMART |
|
PTBI
|
155 |
257 |
7.8e-60 |
SMART |
|
low complexity region
|
263 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
378 |
399 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
689 |
N/A |
INTRINSIC |
|
low complexity region
|
784 |
794 |
N/A |
INTRINSIC |
|
low complexity region
|
801 |
810 |
N/A |
INTRINSIC |
|
low complexity region
|
824 |
837 |
N/A |
INTRINSIC |
|
low complexity region
|
1019 |
1040 |
N/A |
INTRINSIC |
|
low complexity region
|
1051 |
1062 |
N/A |
INTRINSIC |
|
low complexity region
|
1111 |
1127 |
N/A |
INTRINSIC |
|
low complexity region
|
1185 |
1200 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit 50 percent reductions in body weights at birth and at 4 months of age, impaired glucose tolerance, and mild insulin and IGF-1 resistance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
A |
G |
11: 3,976,366 (GRCm38) |
K334E |
possibly damaging |
Het |
| Ache |
G |
A |
5: 137,290,559 (GRCm38) |
V176M |
probably damaging |
Het |
| Acss3 |
T |
C |
10: 106,948,744 (GRCm38) |
D539G |
probably damaging |
Het |
| Adam6b |
T |
A |
12: 113,491,463 (GRCm38) |
D633E |
probably benign |
Het |
| Aldh16a1 |
G |
A |
7: 45,154,407 (GRCm38) |
|
probably benign |
Het |
| Amigo2 |
G |
A |
15: 97,245,726 (GRCm38) |
Q272* |
probably null |
Het |
| Aoc1l1 |
A |
G |
6: 48,976,322 (GRCm38) |
T394A |
possibly damaging |
Het |
| Appbp2 |
A |
T |
11: 85,210,099 (GRCm38) |
H171Q |
probably damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,439,499 (GRCm38) |
D277G |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,535,820 (GRCm38) |
V95A |
probably benign |
Het |
| Atp6v0a4 |
C |
T |
6: 38,050,507 (GRCm38) |
|
probably null |
Het |
| Atp8a1 |
A |
T |
5: 67,767,153 (GRCm38) |
N289K |
probably benign |
Het |
| Cand2 |
C |
T |
6: 115,791,743 (GRCm38) |
L505F |
probably damaging |
Het |
| Ccnt2 |
A |
G |
1: 127,803,228 (GRCm38) |
K614R |
probably benign |
Het |
| Col25a1 |
A |
G |
3: 130,478,983 (GRCm38) |
|
probably null |
Het |
| Copa |
T |
A |
1: 172,118,944 (GRCm38) |
L976* |
probably null |
Het |
| Ddx39b |
T |
C |
17: 35,251,311 (GRCm38) |
V267A |
probably benign |
Het |
| Dpp4 |
T |
A |
2: 62,334,311 (GRCm38) |
Q709L |
probably damaging |
Het |
| Eno4 |
A |
G |
19: 58,968,472 (GRCm38) |
|
probably null |
Het |
| Exoc3 |
A |
G |
13: 74,174,015 (GRCm38) |
L647P |
probably benign |
Het |
| Eya4 |
T |
C |
10: 23,140,077 (GRCm38) |
S308G |
possibly damaging |
Het |
| Fbxo41 |
T |
C |
6: 85,477,656 (GRCm38) |
T693A |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 28,092,022 (GRCm38) |
T903A |
possibly damaging |
Het |
| Fkbp10 |
G |
T |
11: 100,423,526 (GRCm38) |
W384L |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,652,505 (GRCm38) |
I1527T |
possibly damaging |
Het |
| H13 |
T |
A |
2: 152,688,955 (GRCm38) |
I220N |
probably damaging |
Het |
| Has2 |
T |
C |
15: 56,667,916 (GRCm38) |
R468G |
probably damaging |
Het |
| Ighmbp2 |
A |
G |
19: 3,274,538 (GRCm38) |
S243P |
probably damaging |
Het |
| Kcnk1 |
C |
T |
8: 126,025,405 (GRCm38) |
T250M |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,510,464 (GRCm38) |
V458A |
probably benign |
Het |
| Krt14 |
T |
C |
11: 100,205,625 (GRCm38) |
T208A |
probably benign |
Het |
| Mybpc3 |
C |
A |
2: 91,124,849 (GRCm38) |
H349Q |
possibly damaging |
Het |
| Neurl3 |
T |
A |
1: 36,266,506 (GRCm38) |
T207S |
possibly damaging |
Het |
| Nol9 |
T |
C |
4: 152,050,574 (GRCm38) |
V388A |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,157,987 (GRCm38) |
N315D |
probably damaging |
Het |
| Oas1h |
G |
T |
5: 120,870,982 (GRCm38) |
A252S |
probably damaging |
Het |
| Or13c7b |
C |
A |
4: 43,821,183 (GRCm38) |
M59I |
probably damaging |
Het |
| Pcbp1 |
G |
A |
6: 86,525,152 (GRCm38) |
T255M |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,199,608 (GRCm38) |
V18A |
probably benign |
Het |
| Ppp1r17 |
A |
T |
6: 56,026,544 (GRCm38) |
E114V |
probably damaging |
Het |
| Scamp5 |
A |
T |
9: 57,445,433 (GRCm38) |
M151K |
possibly damaging |
Het |
| Sestd1 |
T |
C |
2: 77,218,168 (GRCm38) |
Y135C |
possibly damaging |
Het |
| Slc22a21 |
T |
G |
11: 53,951,349 (GRCm38) |
K534N |
probably benign |
Het |
| Slc25a12 |
T |
C |
2: 71,282,573 (GRCm38) |
E448G |
probably damaging |
Het |
| Slco3a1 |
A |
G |
7: 74,346,818 (GRCm38) |
L280P |
probably damaging |
Het |
| Sppl2b |
C |
A |
10: 80,866,045 (GRCm38) |
|
probably null |
Het |
| Srd5a2 |
T |
C |
17: 74,027,019 (GRCm38) |
E135G |
possibly damaging |
Het |
| Tfg |
A |
T |
16: 56,701,104 (GRCm38) |
M183K |
probably damaging |
Het |
| Ticrr |
G |
A |
7: 79,679,133 (GRCm38) |
M673I |
probably benign |
Het |
| Tm4sf20 |
T |
G |
1: 82,768,237 (GRCm38) |
M61L |
probably benign |
Het |
| Ttll8 |
A |
T |
15: 88,939,006 (GRCm38) |
S85T |
possibly damaging |
Het |
| Uggt2 |
G |
A |
14: 119,042,726 (GRCm38) |
S780F |
probably damaging |
Het |
| Uroc1 |
T |
C |
6: 90,347,320 (GRCm38) |
L442P |
probably damaging |
Het |
| Zfp1005 |
C |
T |
2: 150,269,474 (GRCm38) |
H695Y |
possibly damaging |
Het |
| Znrf3 |
A |
G |
11: 5,289,006 (GRCm38) |
|
probably benign |
Het |
| Zswim2 |
C |
A |
2: 83,925,183 (GRCm38) |
D125Y |
possibly damaging |
Het |
|
| Other mutations in Irs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00325:Irs1
|
APN |
1 |
82,288,483 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL00534:Irs1
|
APN |
1 |
82,288,471 (GRCm38) |
missense |
probably benign |
|
|
IGL01926:Irs1
|
APN |
1 |
82,289,959 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02130:Irs1
|
APN |
1 |
82,289,467 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03338:Irs1
|
APN |
1 |
82,288,401 (GRCm38) |
missense |
probably benign |
0.05 |
|
Hoverboard
|
UTSW |
1 |
82,290,098 (GRCm38) |
nonsense |
probably null |
|
|
runt
|
UTSW |
1 |
82,287,732 (GRCm38) |
frame shift |
probably null |
|
|
runt2
|
UTSW |
1 |
82,286,967 (GRCm38) |
nonsense |
probably null |
|
|
Sprite
|
UTSW |
1 |
82,288,109 (GRCm38) |
nonsense |
probably null |
|
|
R0019:Irs1
|
UTSW |
1 |
82,287,256 (GRCm38) |
nonsense |
probably null |
|
|
R0063:Irs1
|
UTSW |
1 |
82,288,859 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0063:Irs1
|
UTSW |
1 |
82,288,859 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0318:Irs1
|
UTSW |
1 |
82,288,660 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1199:Irs1
|
UTSW |
1 |
82,289,626 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1363:Irs1
|
UTSW |
1 |
82,287,288 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1584:Irs1
|
UTSW |
1 |
82,289,444 (GRCm38) |
missense |
probably benign |
0.24 |
|
R1874:Irs1
|
UTSW |
1 |
82,289,853 (GRCm38) |
frame shift |
probably null |
|
|
R1903:Irs1
|
UTSW |
1 |
82,289,461 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1929:Irs1
|
UTSW |
1 |
82,288,459 (GRCm38) |
missense |
probably benign |
|
|
R1986:Irs1
|
UTSW |
1 |
82,288,765 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2136:Irs1
|
UTSW |
1 |
82,290,042 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2179:Irs1
|
UTSW |
1 |
82,290,219 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R2271:Irs1
|
UTSW |
1 |
82,288,459 (GRCm38) |
missense |
probably benign |
|
|
R2760:Irs1
|
UTSW |
1 |
82,288,570 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3721:Irs1
|
UTSW |
1 |
82,290,085 (GRCm38) |
missense |
probably benign |
0.11 |
|
R3821:Irs1
|
UTSW |
1 |
82,290,049 (GRCm38) |
missense |
probably benign |
|
|
R4306:Irs1
|
UTSW |
1 |
82,287,964 (GRCm38) |
missense |
probably benign |
0.11 |
|
R4420:Irs1
|
UTSW |
1 |
82,288,450 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4451:Irs1
|
UTSW |
1 |
82,289,028 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4479:Irs1
|
UTSW |
1 |
82,287,294 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4771:Irs1
|
UTSW |
1 |
82,287,975 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4782:Irs1
|
UTSW |
1 |
82,287,463 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4836:Irs1
|
UTSW |
1 |
82,287,732 (GRCm38) |
frame shift |
probably null |
|
|
R4880:Irs1
|
UTSW |
1 |
82,287,732 (GRCm38) |
frame shift |
probably null |
|
|
R4881:Irs1
|
UTSW |
1 |
82,287,732 (GRCm38) |
frame shift |
probably null |
|
|
R5031:Irs1
|
UTSW |
1 |
82,286,967 (GRCm38) |
nonsense |
probably null |
|
|
R5053:Irs1
|
UTSW |
1 |
82,286,922 (GRCm38) |
missense |
probably benign |
|
|
R5418:Irs1
|
UTSW |
1 |
82,288,770 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5595:Irs1
|
UTSW |
1 |
82,289,925 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6381:Irs1
|
UTSW |
1 |
82,287,684 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R6563:Irs1
|
UTSW |
1 |
82,288,407 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7002:Irs1
|
UTSW |
1 |
82,288,260 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7095:Irs1
|
UTSW |
1 |
82,290,098 (GRCm38) |
nonsense |
probably null |
|
|
R7195:Irs1
|
UTSW |
1 |
82,287,456 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7216:Irs1
|
UTSW |
1 |
82,289,755 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7361:Irs1
|
UTSW |
1 |
82,289,114 (GRCm38) |
nonsense |
probably null |
|
|
R7490:Irs1
|
UTSW |
1 |
82,287,264 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7540:Irs1
|
UTSW |
1 |
82,288,002 (GRCm38) |
missense |
not run |
|
|
R7706:Irs1
|
UTSW |
1 |
82,287,691 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7910:Irs1
|
UTSW |
1 |
82,290,081 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7912:Irs1
|
UTSW |
1 |
82,289,884 (GRCm38) |
missense |
probably benign |
|
|
R7962:Irs1
|
UTSW |
1 |
82,288,722 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R8139:Irs1
|
UTSW |
1 |
82,289,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8158:Irs1
|
UTSW |
1 |
82,289,533 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8159:Irs1
|
UTSW |
1 |
82,288,569 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8187:Irs1
|
UTSW |
1 |
82,288,300 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8288:Irs1
|
UTSW |
1 |
82,287,961 (GRCm38) |
nonsense |
probably null |
|
|
R8436:Irs1
|
UTSW |
1 |
82,290,249 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R8865:Irs1
|
UTSW |
1 |
82,288,109 (GRCm38) |
nonsense |
probably null |
|
|
R8950:Irs1
|
UTSW |
1 |
82,286,931 (GRCm38) |
missense |
probably benign |
|
|
R9591:Irs1
|
UTSW |
1 |
82,288,248 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0063:Irs1
|
UTSW |
1 |
82,288,908 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0065:Irs1
|
UTSW |
1 |
82,289,365 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Irs1
|
UTSW |
1 |
82,290,394 (GRCm38) |
missense |
probably benign |
0.29 |
|
Z1177:Irs1
|
UTSW |
1 |
82,288,996 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATGTAGCCATTGGGGTCC -3'
(R):5'- TCCTACCATTTCCCATCAGAAG -3'
Sequencing Primer
(F):5'- GTAGCCATTGGGGTCCACTCTC -3'
(R):5'- GACCCCCTCACAGTCTTCAGTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation